OBJECTIVE: Environmental pollutants, especially environmental toxins (ET), may have the potential to disrupt neurodevelopmental pathways during early brain development. This study was designed to test our hypothesis that mothers with autism spectrum disorder (ASD) children would have less knowledge about ET and more chance to be exposed to ET than mothers with healthy children (MHC). METHODS: One hundred and six biologic mothers with ASD children (MASD) and three hundred twenty four biologic mothers with healthy children MHC were assessed using two questionnaires asking about ET. RESULTS: The total score in response to questions related to knowledge about ET in MHC was higher than that in MASD. The possibility of exposure to ET was higher in MASD than MHC. MASD showed higher sub-scale scores in terms of exposures to canned food, plastics, waste incinerators, old electronics, microwavable food, and textiles. CONCLUSION: The current results show that reduced knowledge about ET and greater exposure to ET may be associated with autism spectrum disorder.
Autistic Disorder ; Brain ; Child ; Autism Spectrum Disorder ; Electronics ; Electrons ; Environmental Pollutants ; Food, Preserved ; Humans ; Mothers ; Plastics ; Surveys and Questionnaires ; Textiles

Embryonal rhabdomyosarcoma, called sarcoma botryoides, is the most common malignant tumor arising from in the infant vagina. This tumor is diagnosed before the age of 5 and highly malignant. We experienced a case of embryonal rhabdomyosarcoma arising from vaginal wall in 5-year-old girl. Authors presented this case with a brief review of literature.
Child* ; Child, Preschool* ; Female ; Humans ; Infant ; Rhabdomyosarcoma, Embryonal* ; Sarcoma ; Vagina

OBJECTIVE: To determine the frequency and degree on change in mammographic densities, and calcification in the breast tissue, during different types of hormone replacement therapy and to evaluate the factors that play a role on the breast cancer. METHOD: A retrospective review of 268 cases menopausal women for HRT group and 52 cases menopausal women for unmatched control group. Mammographic evaluations for the distribution of breast densities and calcification, new solid mass and cyst in four different type of HRT were performed each every year during 5 years. The significant increase of breast densities and calcifications and new formation of neoplasm were taken with breast sonogram. 10 cases were biopsied for the confirmation of maliganancy. RESULT: Compared with the conrol groups, the hormone user group have a significant increase in the breast densitiy for 5 years (p<0.05), and the addition of progesterone in HRT showed a significant increase in the breast densities during 5 years (p<0.05), but we cannot find the correlation for new formation of solid mass and cyst and HRT (p>0.05). Among 10 cases in suspicious malignancy, 9 cases were confirmed to the malignancy by biopsy. CONCLUSION: The results of this study revealed that not only progesterone combined HRT but also estrogen only HRT significantly increased mammographic density. There is no relationship on the calcification and HRT in this study. The annual checking of mammography is necessary to HRT.
Biopsy ; Breast Neoplasms ; Breast* ; Estrogens ; Female ; Hormone Replacement Therapy* ; Humans ; Mammography ; Progesterone ; Retrospective Studies

OBJECTIVE: To determine the frequency and degree on change in mammographic densities, and calcification in the breast tissue, during different types of hormone replacement therapy and to evaluate the factors that play a role on the breast cancer. METHOD: A retrospective review of 268 cases menopausal women for HRT group and 52 cases menopausal women for unmatched control group. Mammographic evaluations for the distribution of breast densities and calcification, new solid mass and cyst in four different type of HRT were performed each every year during 5 years. The significant increase of breast densities and calcifications and new formation of neoplasm were taken with breast sonogram. 10 cases were biopsied for the confirmation of maliganancy. RESULT: Compared with the conrol groups, the hormone user group have a significant increase in the breast densitiy for 5 years (p<0.05), and the addition of progesterone in HRT showed a significant increase in the breast densities during 5 years (p<0.05), but we cannot find the correlation for new formation of solid mass and cyst and HRT (p>0.05). Among 10 cases in suspicious malignancy, 9 cases were confirmed to the malignancy by biopsy. CONCLUSION: The results of this study revealed that not only progesterone combined HRT but also estrogen only HRT significantly increased mammographic density. There is no relationship on the calcification and HRT in this study. The annual checking of mammography is necessary to HRT.
Biopsy ; Breast Neoplasms ; Breast* ; Estrogens ; Female ; Hormone Replacement Therapy* ; Humans ; Mammography ; Progesterone ; Retrospective Studies

OBJECTIVE: The goal of this study was to determine the relationship between peak bone density and polymorphism of estrogen receptor gene in Korean premenopausal women. METHOD: We amplified Estrogen receptor by polymerase chain reaction and its digestion pattern of Pvu II and Xba I was examined from the 172 women who were in premenopause. The genetic subtype was classified by its digestion pattern and its combination genotype, e.g. PP, Pp, pp, XX, Xx, xx, PPXX, PPXx, PPxx, PpXx, Ppxx, xxpp. Bone mineral density of each genetic subtype were compared. RESULTS: The genotype distribution was as follows: PP; 16.3%, Pp; 45.9%, pp; 37.8%, XX; 1.2%, Xx; 25.0%, xx; 73.8%, PPXX; 1.1%, PPXx; 8.7%, PPxx; 6.4%, PpXx; 16.3%, Ppxx; 29.7%, ppxx; 37.8%. ER gene polymorphism was associated with bone mineral density at forearm bone mineral density (P<0.05) with the xx genotype having the less BMD than Xx genotype. CONCLUSION: Xba I estrogen receptor gene polymorphism is associated with bone mineral density in premenopausal women. Estrogen receptor gene polymorphism may have a modulatory role in bone metabolism in premenopausal women. And it can be used as predictor of forearm peak bone density.
Bone Density* ; Digestion ; Estrogens* ; Female ; Forearm ; Genotype ; Humans ; Metabolism ; Polymerase Chain Reaction ; Premenopause

Blood Grouping and Crossmatching ; Blood Transfusion ; Blood Transfusion, Autologous ; Hemorrhage ; Humans ; Mass Screening ; Orthognathic Surgery ; Surgery, Oral

BACKGROUND AND OBJECTIVES: Several neurotrophic factors have been shown to play an essential trophic role in the development, maintenance and regulation of neuronal function. Specific neurotrophins are currently used in clinical trials for the treatment of some neurodegenerative diseases. The purposes of this experiment were twofold. Firstly, we aimed to determine the trophic effects of BDNF, NT-3, and 25 mM K+ on auditory neurons in dissociated cultures of early postnatal spiral ganglia. Secondly, we tried to collect pure neural cells after dissociating the spiral ganglions using the immunomagnetic sorting method with one of neuronal surface antigens. MATERIALS AND METHODS: Dissociated spiral ganglion cell cultures were pre-pared from cochleae of Sprague Dawley rats of 5-6 days old, and maintained in a neurobasal medium with modified N2 supplements. BDNF (50 ng/ml), NT-3 (50 ng/ml), and 25 mM K+ were added to the cultures, respectively. These cells were grown during the time course (24hr, 48hr, 72hr, 98hr) and stained with NF-200 to identify survival of spiral ganglion neurons. Immunomagnetic cell sorting for separation of spiral ganglion neurons in dissociated cells was carried out using the MiniMACS Separating System. Magnetically separated cells were analysed by flow cytometry. RESULTS: Survival of the auditory neurons in the dissociated cells was significantly increased by addition of BDNF, NT-3, and 25K. The effect of 25 mM K+ on neuronal survival showed the highest in the experimental conditions. BDNF dramatically increased the neurite length compared with those under other conditions. After immunomagnetic sorting in dissociated cultures, spiral ganglion neurons were shown to contain 50% of the fluorescently labeled positive cells. CONCLUSIONS: Neurotrophins (BDNF, NT-3) and depolarization by 25 mM K+ were essential trophic factors for postnatal auditory neurons and BDNF stimulated neuritogenesis in cultured spiral ganglion neurons. The immunomagnetic cell sorting method is not appropriate for collecting pure neural cells from the dissociated cells of spiral ganglia (50% purity).
Antigens, Surface ; Brain-Derived Neurotrophic Factor ; Cell Culture Techniques* ; Cochlea ; Flow Cytometry ; Nerve Growth Factors* ; Neurites ; Neurodegenerative Diseases ; Neurons* ; Rats, Sprague-Dawley ; Ritodrine ; Spiral Ganglion*

The recent emergence of Staphylococcus schleiferi in dogs with otitis externa or skin and soft tissue infections has become a significant zoonotic issues. In the current study, we investigated 1) the carriage rates of S. schleiferi among major staphylococci in healthy dogs and dogs with otitis externa, 2) antibiotic susceptibility profiles of S. schleiferi, particularly methicillin resistance (MR), and 3) virulence factors associated with skin and soft tissue infections such as ability to form biofilm, resistance to cationic antimicrobial peptides (CAMPs), and carriage of staphylococcal enterotoxin genes. Among the 21 S. schleiferi isolates, 5 isolates (24%) were determined to be methicillin-resistant (MRSS). Staphylococcal cassette chromosome mec (SCCmec) typing revealed the presence of SCCmec type V in 4 MRSS isolates and type VII in one MRSS. Higher levels of antibiotic resistance, especially multidrug resistance, were observed in MRSS isolates compared to the methicillin-susceptible S. schleiferi (MSSS) isolates. In addition, MRSS isolates exhibited enhanced ability to form biofilm under static condition and all the 5 MRSS isolates carried three or more enterotoxin genes. However, there were no significant differences in resistance to CAMPs between MRSS and MSSS isolates. These findings suggest that coagulase-negative S. schleiferi is becoming more prevalent in canine otitis externa cases. Our results also highlight the presence of multidrug-resistant MRSS isolates with enhanced biofilm production and carriage of multiple enterotoxins.
Animals ; Antimicrobial Cationic Peptides ; Biofilms ; Dogs ; Drug Resistance, Microbial ; Drug Resistance, Multiple ; Enterotoxins ; Methicillin Resistance ; Otitis Externa ; Otitis ; Skin ; Soft Tissue Infections ; Staphylococcus ; Virulence Factors ; Virulence

BACKGROUND: Abnormal expansion of trinucleotide repeats in genes causing spinocerebellar ataxias such as SCA2, SCA3, SCA8, or SCA17 was reported in sporadic or familial Parkinson's disease. Genetic factors play an important role especially in early-onset Parkinson's disease (EOPD). To investigate mutations of ATXN2, ATXN3, and TBP as a possible cause in Korean EOPD, we analyzed mutations in these genes. We also investgated the possibility that trinucleotide repeats numbers in these genes contribute to the development of EOPD. METHODS: Mutation analysis of ATXN2, ATXN3, and TBP was done in 153 EOPD defined as age-at-onset before 51. Distribution of CAG repeats numbers were compared between EOPD and age- and sex-matched controls. RESULTS: No patients with EOPD had CAG repeats numbers in ATXN2, ATXN3, and TBP in mutation range. There was no difference in the distribution of CAG repeats between EOPD and controls, although we found a trend that CAG repeats numbers in ATXN3 appear larger in EOPD than in controls. CONCLUSIONS: Mutations of genes causing SCA2, SCA3, or SCA17 may not be a common genetic cause in Korean EOPD.
Humans ; Organophosphates ; Parkinson Disease ; Spinocerebellar Ataxias ; Trinucleotide Repeats

OBJECTIVE: Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea. METHODS: We collected genetically confirmed NBIA patients from twelve nationwide referral hospitals and from a review of the literature. We conducted a study to describe the phenotypic and genotypic characteristics of Korean adults with atypical pantothenate kinase-associated neurodegeneration (PKAN). RESULTS: Four subtypes of NBIA including PKAN (n = 30), PLA2G6-related neurodegeneration (n = 2), beta-propeller protein-associated neurodegeneration (n = 1), and aceruloplasminemia (n = 1) have been identified in the Korean population. The clinical features of fifteen adults with atypical PKAN included early focal limb dystonia, parkinsonism-predominant feature, oromandibular dystonia, and isolated freezing of gait (FOG). Patients with a higher age of onset tended to present with parkinsonism and FOG. The p.R440P and p.D378G mutations are two major mutations that represent approximately 50% of the mutated alleles. Although there were no specific genotype-phenotype correlations, most patients carrying the p.D378G mutation had a late-onset, atypical form of PKAN. CONCLUSIONS: We found considerable phenotypic heterogeneity in Korean adults with atypical PKAN. The age of onset may influence the presentation of extrapyramidal symptoms.
Adult ; Age of Onset ; Alleles ; Basal Ganglia ; Brain ; Dystonia ; Freezing ; Gait ; Gene Frequency ; Genetic Association Studies ; Humans ; Iron ; Korea ; Movement Disorders ; Neurodegenerative Diseases ; Pantothenate Kinase-Associated Neurodegeneration* ; Parkinsonian Disorders ; Phenotype ; Population Characteristics* ; Referral and Consultation ; Weather